Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP1A4_chr1_160146603_160191980	160186086	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02074.hp2 HG02451.hp2 others(15): Show HG01256.hp2 HG02074.hp2 HG02451.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03710.hp1 HG06807.hp2 NA18612.hp2 NA18944.hp2 NA18959.hp2 NA18968.hp2 NA18979.hp1 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0017	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0045 a0002c0006 a0002c0022 a0002c0030 a0003c0007 a0006c0015 a0008c0025 a0017c0049	a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 others(9): Show a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0045t0001 a0002c0006t0002 a0002c0022t0001 a0002c0030t0002 a0003c0007t0001 a0006c0015t0001 a0008c0025t0001 a0017c0049t0001	a0001c0001t0003g0386 a0001c0003t0001g0279 a0001c0003t0001g0341 others(14): Show a0001c0001t0003g0386 a0001c0003t0001g0279 a0001c0003t0001g0341 a0001c0004t0001g0317 a0001c0005t0001g0104 a0001c0005t0001g0337 a0001c0005t0001g0344 a0001c0005t0001g0346 a0001c0045t0001g0058 a0002c0006t0002g0185 a0002c0022t0001g0370 a0002c0030t0002g0195 a0003c0007t0001g0003 a0006c0015t0001g0059 a0006c0015t0001g0061 a0008c0025t0001g0102 a0017c0049t0001g0399	18	418	0.0431	11	c.297 others(28): Show c.2970-178_2970-168dupAAAAAAAAAAA	ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP1B2_chr17_7645926_7662770	7660810	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18612.hp2 NA19043.hp1 HG00597.hp2 NA18612.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0003 a0001c0001t0020g0010 a0001c0001t0007g0003 a0001c0001t0020g0010	3	440	0.0068	11	c.49 others(22): Show c.4915_*4916insAAAAAAAAAAA	ATP1B2	ENSG00000129244.9	transcript	ENST00000250111.9	protein_coding		3041		chr17	TogoVar
ATP1B3_chr3_141871643_141931549	141874406	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0277 a0001c0001t0012g0277	1	408	0.0025	11	c.-23 others(22): Show c.-2396_-2395insAAAAAAAAAAA	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2236		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874434	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	408	0.0025	11	c.-23 others(22): Show c.-2368_-2367insTATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2208		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874436	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01256.hp2 HG01167.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0068 a0001c0001t0003g0069	2	408	0.0049	11	c.-23 others(22): Show c.-2366_-2365insTATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2206		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAT others(4): Show AAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA18954.hp1 HG01346.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0289 a0001c0001t0003g0053 a0001c0001t0001g0289 a0001c0001t0003g0053	2	408	0.0049	11	c.-23 others(22): Show c.-2364_-2363insAAAAAATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02135.hp1 HG03486.hp1 others(1): Show HG02083.hp1 HG02135.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0001g0326 a0001c0001t0002g0257 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0326 a0001c0001t0002g0257 a0001c0001t0003g0015	4	408	0.0098	11	c.-23 others(22): Show c.-2364_-2363insAAAATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAATATAT others(4): Show AAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02809.hp2 HG00741.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0020 a0001c0001t0003g0042	2	408	0.0049	11	c.-23 others(22): Show c.-2364_-2363insAATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141880242	T T	TTTTGAGT others(4): Show TTTTGAGTGGCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	408	0.0025	11	c.109 others(28): Show c.109+3333_109+3343dupTTTGAGTGGCC	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374643	T T	TATAAGGG others(4): Show TATAAGGGTGTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	2	353	0.0057	11	c.563 others(26): Show c.563-729_563-728insATAAGGGTGTA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7			chrX	TogoVar
ATP1B4_chrX_120357089_120388237	120374868	G G	GTATATAT others(4): Show GTATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02040.hp1 NA19012.hp1 HG02027.hp1 HG02040.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0003g0038 a0001c0001t0001g0183 a0001c0001t0003g0038	3	353	0.0085	11	c.563 others(26): Show c.563-496_563-495insTATTATATATA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP1B4_chrX_120357089_120388237	120385253	T T	TGTGACGT others(4): Show TGTGACGTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	353	0.0028	11	c.56 others(22): Show c.5619_*5620insGTGACGTTCCC	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding		2017		chrX	TogoVar
ATP2A2_chr12_110276247_110356093	110298323	T T	TGTGTGTA others(4): Show TGTGTGTAAATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02647.hp2 HG02809.hp1 others(3): Show HG01943.hp1 HG02647.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 others(3): Show a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017	6	228	0.0263	11	c.463 others(28): Show c.463+1593_463+1603dupAAATGGTGTGT	ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A2_chr12_110276247_110356093	110309140	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0030 a0001c0008t0030	a0001c0008t0030g0184 a0001c0008t0030g0184	1	228	0.0044	11	c.463 others(30): Show c.463+12428_463+12438dupTTTTTTTTTTT	ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A3_chr17_3918873_3969437	3965877	T T	TTATTATT others(4): Show TTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02148.hp2 HG02647.hp1 others(2): Show HG01517.hp2 HG02148.hp2 HG02647.hp1 HG02735.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0027 others(1): Show a0001c0004 a0001c0005 a0001c0027 a0002c0006	a0001c0004t0004 a0001c0005t0001 a0001c0027t0002 others(1): Show a0001c0004t0004 a0001c0005t0001 a0001c0027t0002 a0002c0006t0010	a0001c0004t0004g0087 a0001c0005t0001g0006 a0001c0027t0002g0033 others(1): Show a0001c0004t0004g0087 a0001c0005t0001g0006 a0001c0027t0002g0033 a0002c0006t0010g0048	5	332	0.0151	11	c.-15 others(22): Show c.-1587_-1586insTAATAATAATA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1441		chr17	TogoVar
ATP2A3_chr17_3918873_3969437	3966363	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	332	0.0030	11	c.-20 others(22): Show c.-2073_-2072insAAAAAAAAAAA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1927		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89583790	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02300.hp1 HG02976.hp2 others(1): Show HG00642.hp1 HG02300.hp1 HG02976.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0280 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0280 a0001c0001t0001g0305	4	332	0.0121	11	c.71 others(22): Show c.7193_*7194insCCCCCCCCCCC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding		4258		chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10356074	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0052 a0001c0003t0003g0052	1	290	0.0035	11	c.213 others(30): Show c.2136+2606_2136+2616dupTTTTTTTTTTT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22			chr3	TogoVar
ATP2B3_chrX_153512642_153587929	153555792	A A	ATGCAACA others(4): Show ATGCAACAACTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp1 HG03041.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0002 a0003c0009t0005 a0001c0003t0002 a0003c0009t0005	a0001c0003t0002g0085 a0003c0009t0005g0081 a0001c0003t0002g0085 a0003c0009t0005g0081	2	267	0.0075	11	c.205 others(28): Show c.2059-254_2059-253insAACAACTCTGC	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding	13/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203680621	A A	AAAGAAAA others(4): Show AAAGAAAAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01099.hp1 others(39): Show HG00099.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG03017.hp1 HG03239.hp1 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18747.hp1 NA18947.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp2 NA19058.hp2 NA19068.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0021 a0001c0001 a0001c0015 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0037 a0001c0001t0044 a0001c0001t0053 a0001c0001t0054 a0001c0015t0002 a0001c0021t0002	a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0002g0044 others(39): Show a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0162 a0001c0001t0002g0175 a0001c0001t0002g0193 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0004g0045 a0001c0001t0004g0303 a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0078 a0001c0001t0006g0086 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0111 a0001c0001t0006g0141 a0001c0001t0006g0152 a0001c0001t0007g0224 a0001c0001t0019g0251 a0001c0001t0020g0159 a0001c0001t0037g0105 a0001c0001t0044g0137 a0001c0001t0053g0180 a0001c0001t0054g0172 a0001c0015t0002g0256 a0001c0021t0002g0195	42	318	0.1321	11	c.-46 others(30): Show c.-464-2119_-464-2118insGAAAAGAAGAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp2 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0028 a0001c0001t0026 a0001c0001t0028	a0001c0001t0026g0258 a0001c0001t0028g0013 a0001c0001t0026g0258 a0001c0001t0028g0013	2	318	0.0063	11	c.193 others(28): Show c.193+3303_193+3313dupTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203704467	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19007.hp2 NA19060.hp2 HG00621.hp1 NA19007.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0034 a0001c0003t0047 a0001c0003t0021 a0001c0003t0034 a0001c0003t0047	a0001c0003t0021g0094 a0001c0003t0034g0114 a0001c0003t0047g0298 a0001c0003t0021g0094 a0001c0003t0034g0114 a0001c0003t0047g0298	3	318	0.0094	11	c.109 others(28): Show c.1099+675_1099+685dupTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203719225	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0033 a0001c0012t0033	a0001c0012t0033g0151 a0001c0012t0033g0151	1	318	0.0031	11	c.240 others(30): Show c.2407-1314_2407-1304dupAAAAAAAAAAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203723457	T T	TCTCTCTC others(4): Show TCTCTCTCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04184.hp2 HG01099.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0140 a0001c0001t0019g0251 a0001c0001t0006g0140 a0001c0001t0019g0251	2	318	0.0063	11	c.302 others(28): Show c.3025-421_3025-420insTCTCCTCCCTC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203723460	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 NA18956.hp2 others(3): Show HG01934.hp1 HG02004.hp1 NA18956.hp2 NA18968.hp2 NA18971.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0004g0184 a0001c0001t0004g0191 a0001c0001t0005g0088 others(3): Show a0001c0001t0004g0184 a0001c0001t0004g0191 a0001c0001t0005g0088 a0001c0001t0005g0131 a0001c0001t0016g0021 a0001c0001t0016g0147	6	318	0.0189	11	c.302 others(28): Show c.3025-421_3025-420insTCTCTCTCTCT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	18/20			chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130970407	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	382	0.0026	11	c.141 others(30): Show c.1413+1011_1413+1012insACACACACACA	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27			chr3	TogoVar
ATP2C1_chr3_130889084_131008150	131007072	T T	TGATAAAT others(4): Show TGATAAATCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	382	0.0026	11	c.57 others(22): Show c.5722_*5723insGATAAATCTAA	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding		3923		chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18956.hp1 NA19043.hp1 others(1): Show HG03927.hp2 NA18956.hp1 NA19043.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0004t0003	a0001c0001t0001g0391 a0001c0001t0003g0420 a0001c0003t0001g0111 others(1): Show a0001c0001t0001g0391 a0001c0001t0003g0420 a0001c0003t0001g0111 a0002c0004t0003g0381	4	432	0.0093	11	c.100 others(26): Show c.100-836_100-826dupAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424576	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0007 a0007	a0007c0059 a0007c0059	a0007c0059t0002 a0007c0059t0002	a0007c0059t0002g0143 a0007c0059t0002g0143	1	432	0.0023	11	c.920 others(28): Show c.920-1146_920-1136dupTTTTTTTTTTT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84444162	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 homoSapiens_chm13v2.hp1 HG01192.hp1 HG01255.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0014 a0003 a0005 a0014	a0003c0025 a0005c0017 a0014c0080 a0003c0025 a0005c0017 a0014c0080	a0003c0025t0001 a0005c0017t0001 a0014c0080t0011 a0003c0025t0001 a0005c0017t0001 a0014c0080t0011	a0003c0025t0001g0145 a0005c0017t0001g0010 a0014c0080t0011g0018 a0003c0025t0001g0145 a0005c0017t0001g0010 a0014c0080t0011g0018	3	432	0.0069	11	c.140 others(30): Show c.1401+1575_1401+1585dupAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46096982	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0228 a0001c0001t0039g0228	1	390	0.0026	11	c.60+ others(26): Show c.60+1179_60+1189dupTTTTTTTTTTT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46102970	A A	AAATAAGC others(4): Show AAATAAGCTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	390	0.0026	11	c.-47 others(22): Show c.-4750_-4740dupCCAAGCTTATT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding		4675		chr18	TogoVar
ATP5F1B_chr12_56633175_56650984	56648441	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(45): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0011	48	390	0.1231	11	c.-24 others(22): Show c.-2479_-2478insTTTTTTTTTTT	ATP5F1B	ENSG00000110955.9	transcript	ENST00000262030.8	protein_coding		2458		chr12	TogoVar
ATP5F1B_chr12_56633175_56650984	56648449	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00597.hp2 others(79): Show HG00280.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01952.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02976.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0003c0003t0001g0029	82	390	0.2103	11	c.-24 others(22): Show c.-2487_-2486insCTTTTTTTTTT	ATP5F1B	ENSG00000110955.9	transcript	ENST00000262030.8	protein_coding		2466		chr12	TogoVar
ATP5F1D_chr19_1236751_1249825	1238245	A A	AGGGGGGG others(4): Show AGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	412	0.0024	11	c.-36 others(22): Show c.-3606_-3605insGGGGGGGGGGG	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		3505		chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02280.hp1 HG02717.hp1 others(1): Show HG00558.hp1 HG02280.hp1 HG02717.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	4	334	0.0120	11	c.32 others(22): Show c.3298_*3299insAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667995	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	418	0.0024	11	c.311 others(28): Show c.311+1152_311+1153insATATATATATA	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19005.hp2 NA18964.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	418	0.0048	11	c.39+ others(24): Show c.39+482_39+492dupTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0000 a0001c0002t0011g0000	1	374	0.0027	11	c.12 others(22): Show c.1233_*1243dupTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103908165	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA19011.hp2 HG01978.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0176 a0002c0002t0001g0043 a0002c0002t0001g0176	2	440	0.0046	11	c.45 others(22): Show c.4500_*4501insTTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		4122		chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103925043	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	440	0.0023	11	c.-35 others(22): Show c.-3585_-3575dupAAAAAAAAAAA	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		3515		chr14	TogoVar
ATP5MK_chr10_103384050_103401475	103394920	C C	CAACAATA others(4): Show CAACAATACTAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	438	0.0046	11	c.-10 others(26): Show c.-10+825_-10+826insTTAGTATTGTT	ATP5MK	ENSG00000173915.16	transcript	ENST00000369815.6	protein_coding	2/4			chr10	TogoVar
ATP5PO_chr21_33898453_33920804	33905918	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(19): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02602.hp2 HG02818.hp2 HG03041.hp1 HG03209.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18995.hp2 NA19043.hp1 NA19063.hp2 NA19072.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0122 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0144 a0003c0009t0001g0146	22	436	0.0505	11	c.441 others(28): Show c.441+1412_441+1422dupTTTTTTTTTTT	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding	5/6			chr21	TogoVar
ATP5PO_chr21_33898453_33920804	33911662	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	436	0.0023	11	c.198 others(26): Show c.198+616_198+626dupAAAAAAAAAAA	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding	3/6			chr21	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765561	A A	ATCTATCT others(4): Show ATCTATCTATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01358.hp2 HG02257.hp2 others(7): Show HG01256.hp2 HG01358.hp2 HG02257.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 a0001c0002t0002 a0001c0003t0002 a0003c0007t0013	a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0124 others(7): Show a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0124 a0001c0001t0009g0019 a0001c0001t0009g0031 a0001c0001t0029g0040 a0001c0002t0002g0015 a0001c0002t0002g0158 a0001c0003t0002g0177 a0003c0007t0013g0139	10	222	0.0451	11	c.75 others(22): Show c.7529_*7530insTCTATCTATCT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3807		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138706889	A A	AATTTTTT others(4): Show AATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03704.hp2 HG03579.hp1 HG03704.hp2	a0002 a0003 a0002 a0003	a0002c0043 a0003c0031 a0002c0043 a0003c0031	a0002c0043t0006 a0003c0031t0006 a0002c0043t0006 a0003c0031t0006	a0002c0043t0006g0119 a0003c0031t0006g0344 a0002c0043t0006g0119 a0003c0031t0006g0344	2	376	0.0053	11	c.243 others(28): Show c.2430-173_2430-172insAAAAAAAAAAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707095	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0009 a0009	a0009c0042 a0009c0048 a0009c0042 a0009c0048	a0009c0042t0001 a0009c0048t0005 a0009c0042t0001 a0009c0048t0005	a0009c0042t0001g0111 a0009c0048t0005g0347 a0009c0042t0001g0111 a0009c0048t0005g0347	2	376	0.0053	11	c.243 others(28): Show c.2430-379_2430-378insCACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138730932	T T	TTCTTCTT others(4): Show TTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0038 a0003c0004t0005g0038	1	376	0.0027	11	c.190 others(30): Show c.1908+1944_1908+1945insGAAGAAGAAGA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	17/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	376	0.0027	11	c.157 others(30): Show c.1572+2426_1572+2427insTATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145232	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	360	0.0028	11	c.639 others(28): Show c.639+2282_639+2283insAAGAAAGAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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